1. Genes and Genomic Entities
  2. UPF3B

UPF3B

UPF3B, regulator of nonsense mediated mRNA decay
OMIM: 300298, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red UPF3B in ClinGen_Familial thoracic aortic aneurysm and aortic dissection


Version 0.11

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Amber UPF3B in Autism


Version 0.36

review Not set
Sources
  • Expert Review Amber
  • SFARI
Red UPF3B in Fetal anomalies


Version 3.155
Latest signed off version: v3.0 (22 Mar 2023)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 14
Green UPF3B in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 14 300676
    Green UPF3B in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Mental Retardation, X-linked
    • Mental retardation, X-linked, syndromic 14, 300676
    • MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 14 (MRXS14)
    Green UPF3B in Severe Paediatric Disorders


    Version 1.184

    		review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mental retardation, X-linked, syndromic 14, 300676